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Updated: Jan 20, 2026
Gene Evolution and Sequencing Genomic Regions to Build Phylogenies
Mendelian Gene Discovery: Fast and Furious with No End in Sight
Michael J Bamshad1, Deborah A Nickerson2, Jessica X Chong3
1Department of Pediatrics, University of Washington, Seattle, WA 98195, USA; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA; Brotman-Baty Institute for Precision Medicine, Seattle, WA 98195, USA.
Abstract:
Gene discovery for Mendelian conditions (MCs) offers a direct path to understanding genome function. Approaches based on next-generation sequencing applied at scale have dramatically accelerated gene discovery and transformed genetic medicine. Finding the genetic basis of ∼6,000-13,000 MCs yet to be delineated will require both technical and computational innovation, but will rely to a larger extent on meaningful data sharing.
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